Table 5.
Comparison of the methods in terms of quality, duration and cost.
| Whole Exome Seq | Hybridization Probe Targeted Seq | Singleplex Long-Range Amplicon | Multiplex Long-Range Amplicon | ||||
|---|---|---|---|---|---|---|---|
| 4-Gene | 9-Gene | 4-Gene | 9-Gene | ||||
| Hands-on Time Rate for 1 Sample | PCR | – | – | 3X | 8X | 1X | 2X |
| Gel Electrophoresis | – | – | 3X | 5X | 0.5X | 1X | |
| Library Preparation | 30X | 8X | 6.5X | 6.5X | 6.5X | 6.5X | |
| Total | 30X | 8X | 12.5X | 19.5X | 8X | 9.5X | |
| Coverage | High Output (120 Gb) | Mod. | High | High | High | High | High |
| Mid Output (32 Gb) | Low | High | High | High | High | High | |
| Low Output (5Gb) | – | Mod. | Mod. | Mod. | Mod. | Mod. | |
| Region |
Exons |
Exons |
Exons & Some Introns | Exons & Some Introns | Exons & Some Introns | Exons & Some Introns | |
| CNV Analysis | Low | Low | High | High | High | High | |
| InDels Detection | Low | Low | High | High | High | High | |
| Uniform Coverage | Low | Low | High | High | High | High | |
| Compatibility with Different Sequencing Platforms | – | – | + | + | + | + | |
| Sensitivity | Low | Low | High | High | High | High | |
| GC-Rich Content Detection | Low | Low | High | High | High | High | |
| Estimated Cost Rate for 1 Sample | High Output (120 Gb) | 35X | 24X | 10X | 15X | 7X | 8X |
| Mid Output (32 Gb) | 25X | 20X | 7X | 12X | 5X | 6X | |
| Low Output (5Gb) | – | 19X | 6X | 11X | 4X | 5X | |
The data in the table were prepared based on 2*150bp long readings and estimated cost calculated based on consumables price.